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Page 1
Mortality and morbidity in patients with osteogenesis imperfecta in Denmark.
Folkestad L. Folkestad L. Dan Med J. 2018 Apr;65(4):B5454. Dan Med J. 2018. PMID: 29619932 Free article. Review.
Ostegenesis imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are involved in the biosynthesis of collagen type 1. ...The study included 39 patients with OI type I, and 39 healthy age and gender ma …
Ostegenesis imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are invol …
Dental anomalies in individuals with osteogenesis imperfecta: a systematic review and meta-analysis of prevalence and comparative studies.
Prado HV, Soares ECB, Carneiro NCR, Vilar ICO, Abreu LG, Borges-Oliveira AC. Prado HV, et al. J Appl Oral Sci. 2023 Sep 4;31:e20230040. doi: 10.1590/1678-7757-2023-0040. eCollection 2023. J Appl Oral Sci. 2023. PMID: 37672427 Free PMC article.
BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic disorder primarily caused by mutations in the genes involved in the production of type 1 collagen. ...Most prevalent dental anomalies in individuals with OI included pulp obliteration (46.4%), dental …
BACKGROUND: Osteogenesis imperfecta (OI) is a rare genetic disorder primarily caused by mutations in the genes involved in the …
Radiology of Osteogenesis Imperfecta, Rickets and Other Bony Fragility States.
Calder AD. Calder AD. Endocr Dev. 2015;28:56-71. doi: 10.1159/000380992. Epub 2015 Jun 12. Endocr Dev. 2015. PMID: 26138835 Review.
This section gives an overview of radiological findings in bony fragility states, with a special focus on osteogenesis imperfecta (OI) and rickets. Conventional radiological assessment of bone density is inaccurate and imprecise and only reliably detects severe oste …
This section gives an overview of radiological findings in bony fragility states, with a special focus on osteogenesis imperfecta
Rare diseases: a challenge in paediatric dentistry.
Giuca MR. Giuca MR. Eur J Paediatr Dent. 2024 Sep 3;25(3):171-171. doi: 10.23804/ejpd.2024.25.03.01. Epub 2024 Sep 1. Eur J Paediatr Dent. 2024. PMID: 39212455 Free article. Review.
Osteogenesis imperfecta, or brittle bone disease, is a rare condition characterised by bone fragility and osteopenia. ...The birth prevalence of osteogenesis imperfecta is approximately 1 in 10,000 people. In approximately 90% of cases, it is an autoso
Osteogenesis imperfecta, or brittle bone disease, is a rare condition characterised by bone fragility and osteopenia. ...The b
[Rare bone disorders and respective treatments].
Seefried L, Jakob F. Seefried L, et al. Internist (Berl). 2021 May;62(5):486-495. doi: 10.1007/s00108-021-00995-1. Epub 2021 Mar 29. Internist (Berl). 2021. PMID: 33779789 Review. German.
Correspondingly, the elucidation of the pathophysiology underlying renal phosphate wasting expanded our knowledge regarding phosphate metabolism and bone health and facilitated the development of an anti-FGF-23 Antibody for targeted treatment of X-linked Hypophosphatemia ( …
Correspondingly, the elucidation of the pathophysiology underlying renal phosphate wasting expanded our knowledge regarding phosphate metabo …
Insufficiency stress fractures.
Cooper KL. Cooper KL. Curr Probl Diagn Radiol. 1994 Mar-Apr;23(2):29-68. doi: 10.1016/0363-0188(94)90006-x. Curr Probl Diagn Radiol. 1994. PMID: 8174391 Review.
Repetitive subthreshold injury to these susceptible bones results in insufficiency-type stress fractures. The spine, pelvis, and lower extremities are commonly affected by these fractures. ...
Repetitive subthreshold injury to these susceptible bones results in insufficiency-type stress fractures. The spine, pelvis, and lowe …
Osteogenesis imperfecta and its molecular diagnosis by determination of mutations of type I collagen genes.
Tedeschi E, Antoniazzi F, Venturi G, Zamboni G, Tatò L. Tedeschi E, et al. Pediatr Endocrinol Rev. 2006 Sep;4(1):40-6. Pediatr Endocrinol Rev. 2006. PMID: 17021582 Review.
Osteogenesis Imperfecta is a genetic disorder of increased bone fragility and low bone mass. Most cases are caused by a mutation in one of the two genes coding for the type I collagen protein. The correct clinical diagnosis of OI can be difficult sometimes, b
Osteogenesis Imperfecta is a genetic disorder of increased bone fragility and low bone mass. Most cases are caused by a mutati
[Clinical condition and therapy of bone diseases].
Miura K, Oznono K. Miura K, et al. Clin Calcium. 2013 Dec;23(12):1789-94. Clin Calcium. 2013. PMID: 24292534 Review. Japanese.
Achondroplasia, hypochondroplasia, and osteogenesis imperfecta are most frequent bone diseases. There is no curative treatment for these diseases, however, supportive therapies are available ; for example, growth-hormone therapy for achondroplasia and hypochondropla …
Achondroplasia, hypochondroplasia, and osteogenesis imperfecta are most frequent bone diseases. There is no curative treatment …
Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review.
Menezes AH, Traynelis VC. Menezes AH, et al. Childs Nerv Syst. 2022 Feb;38(2):361-377. doi: 10.1007/s00381-021-05409-z. Epub 2021 Nov 22. Childs Nerv Syst. 2022. PMID: 34806157 Review.
Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, osteogenesis imperfecta (OI) 2, Aarskog syndrome 1, Weaver syndrome 1, Larsen syndrome 1, multiple cervical level disconnection …
Syndromes encountered were spondyloepiphyseal dysplasia (SED) 4, spondylometaphyseal dysplasia 1, unnamed collagen abnormality syndrome 1, …
[Fetal therapy of skeletal dysplasias].
Murotsuki J. Murotsuki J. Clin Calcium. 2013 Dec;23(12):1784-8. Clin Calcium. 2013. PMID: 24292533 Review. Japanese.
There are several reports of mesenchymal stem cell transplantation for osteogenesis imperfecta fetus. These case reports have showed that stem cell transplantation is safe and to some extent works in patients. ...
There are several reports of mesenchymal stem cell transplantation for osteogenesis imperfecta fetus. These case reports have …
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